inborn mitochondrial metabolism disorder hypotonia-cystinuria syndrome inherited renal tubular disease hypotonia-cystinuria syndrome type 1 ICD10:E72.0 MONDO:0016538 Orphanet:238517 UMLS:CN226952 hypotonia-cystinuria type 1 syndrome homozygous 2p21 microdeletion syndrome inborn disorder of amino acid absorption and transport rare renal tubular disease